Catalogo Articoli (Spogli Riviste)

OPAC HELP

Titolo:
Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors
Autore:
Koch, A; Waha, A; Tonn, JC; Sorensen, N; Berthold, F; Wolter, M; Reifenberger, J; Hartmann, W; Friedl, W; Reifenberger, G; Wiestler, OD; Pietsch, T;
Indirizzi:
Univ Bonn, Ctr Med, Dept Neuropathol, D-53105 Bonn, Germany Univ Bonn Bonn Germany D-53105 , Dept Neuropathol, D-53105 Bonn, Germany Univ Wurzburg, Dept Neurosurg, Wurzburg, Germany Univ Wurzburg Wurzburg Germany zburg, Dept Neurosurg, Wurzburg, Germany Univ Wurzburg, Dept Pediat Neurosurg, Wurzburg, Germany Univ Wurzburg Wurzburg Germany Dept Pediat Neurosurg, Wurzburg, Germany Univ Cologne, Dept Pediat Hematol & Oncol, Cologne, Germany Univ Cologne Cologne Germany t Pediat Hematol & Oncol, Cologne, Germany Univ Dusseldorf, Dept Dermatol, D-4000 Dusseldorf, Germany Univ Dusseldorf Dusseldorf Germany D-4000 ol, D-4000 Dusseldorf, Germany Univ Bonn, Ctr Med, Dept Human Genet, D-5300 Bonn, Germany Univ Bonn Bonn Germany D-5300 ed, Dept Human Genet, D-5300 Bonn, Germany
Titolo Testata:
INTERNATIONAL JOURNAL OF CANCER
fascicolo: 3, volume: 93, anno: 2001,
pagine: 445 - 449
SICI:
0020-7136(20010801)93:3<445:SMOWSP>2.0.ZU;2-U
Fonte:
ISI
Lingua:
ENG
Soggetto:
BETA-CATENIN GENE; FAMILIAL ADENOMATOUS POLYPOSIS; CENTRAL-NERVOUS-SYSTEM; APC GENE; SPORADIC MEDULLOBLASTOMAS; SUPPRESSOR PROTEIN; COLORECTAL TUMORS; TURCOTS-SYNDROME; COLON-CARCINOMA; HUMAN HOMOLOG;
Keywords:
medullablastoma; APC; beta-catenin; Turcot's syndrome;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
45
Recensione:
Indirizzi per estratti:
Indirizzo: Pietsch, T Univ Bonn, Ctr Med, Dept Neuropathol, Sigmund Freud St 25, D-53105 Bonn, Germany Univ Bonn Sigmund Freud St 25 Bonn Germany D-53105 nn, Germany
Citazione:
A. Koch et al., "Somatic mutations of WNT/wingless signaling pathway components in primitive neuroectodermal tumors", INT J CANC, 93(3), 2001, pp. 445-449

Abstract

Primitive neuroectodermal tumors (PNETs) represent the most frequent malignant brain tumors in childhood. The majority of these neoplasms occur in the cerebellum and are classified as medulloblastomas (MB), Most PNETs develop sporadically; however, their incidence is highly elevated in patients carrying germline APC gene mutations, The APC gene encodes a central componentof the WNT/wingless developmental signaling pathway, It regulates the levels of cytoplasmic beta -catenin protein that plays a central role in neuraldevelopment and cell proliferation, We analyzed 87 sporadic PNETs and 10 PNET cell lines for mutations of the APC gene and beta -catenin (CTNNBI) gene using single strand conformational polymorphism (SSCP) and sequencing analysis. We examined the mutation cluster region of APC (codons1255-1641)for germline variants and somatic mutations. The medulloblastoma cell line MHH-MED-2 carried a Glu1317Gln missense germline variant and a sporadic MB sample showed a somatic Prol319Leu substitution, Mutational analysis of exon 3 of CTNNBI uncovered 4 PNETs (4.8%) with somatic missense mutations. These mutations caused amino acid substitutions in 3 of 80 medulloblastomas (Ser33Phe, Ser33Cys and Ser37Cys) and I of 4 supratentorial PNETs (Gly34Val). Allmutations affected GSK-3 beta phosphorylation sites of the degradation targeting box of beta -catenin and resulted in nuclear beta -catenin protein accumulation. Deletions of CTNNBI were not detected by PCR amplification with primers spanning exons 1-5, Our data indicate that inappropriate activation of the WNT/wingless signaling pathway by mutations of its components maycontribute to the pathogenesis of a subset of PNETs, (C) 2001 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/07/20 alle ore 00:55:37